ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8247A>G (p.Thr2749=)

gnomAD frequency: 0.00251  dbSNP: rs116413101
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194876 SCV000247371 uncertain significance not specified 2014-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000194876 SCV000250136 benign not specified 2014-10-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000228293 SCV000287283 benign Congenital contractural arachnodactyly 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000194876 SCV000308656 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002310754 SCV000317395 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-02-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812183 SCV001472078 benign not provided 2019-08-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277456 SCV002566600 likely benign Connective tissue disorder 2022-02-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000194876 SCV004029387 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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